Mutation Details for c.451C>T

cDNA Name

c.451C>T

Protein Name

p.Gln151X

Exon or Intron

exon 4

Legacy Exon or Intron

exon 4

Legacy Name

Q151X

Other Details

This mutation was first detected by SSCP analysis and involves a C->T substituion at base 583. This predicts a glutamine to stop mutation at amino acid 151. The mutation is presnt in conjunction with [delta]F508 on the other chromosome in a CF patient of Mexican origin. IT was not found on 77 non-[delta] CF chromosomes.

Contributors

Shackleton S,
Harris A
1992-05-11

Institute

University of Oxford
Oxford, England

Submitted Phenotype Details

The mutation was found in a heterozygous for deltaF508 fetus whose parents are known CF carriers. (pers. corr. Harris)

Reference

Shackleton et al., 1992

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Literature referencing this mutation. Sort by:
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.